ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1886G>T (p.Trp629Leu)

dbSNP: rs1566967736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003130026 SCV003816294 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723348 SCV000854747 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2018-08-08 no assertion criteria provided clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV000723348 SCV003927893 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2023-04-01 no assertion criteria provided clinical testing

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